XPV
MCID: XRD010
MIFTS: 31

Xeroderma Pigmentosum, Variant Type (XPV) malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Xeroderma Pigmentosum, Variant Type

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48OMIM, 34MalaCards
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MalaCards: Xeroderma Pigmentosum, Variant Type, also known as XPV, is related to xeroderma pigmentosum and angiosarcoma, and has symptoms including telangiectasic erythema/poikiloderma, skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma) and excessive freckling. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (polymerase (DNA directed), eta). Affiliated tissues include skin.

Description from OMIM:48 278750

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

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44NIH Rare Diseases, 23GTR, 48OMIM, 63UMLS, 50Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
xpv:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

xeroderma pigmentosum, variant type 44 23 48 63
xpv 44 50
xeroderma pigmentosum with normal dna repair rates 44
photosensitivity with defective dna synthesis 44
xeroderma pigmentosum variant 50


External Ids:

OMIM48 278750
MESH via Orphanet37 C536766
ICD10 via Orphanet27 Q82.1
SNOMED-CT via Orphanet60 88877002
UMLS via Orphanet64 C0432328, C1848410
ICD1026 Q82.1

Related Diseases for Xeroderma Pigmentosum, Variant Type

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Xeroderma Pigmentosum, Variant Type:



Diseases related to xeroderma pigmentosum, variant type

Symptoms for Xeroderma Pigmentosum, Variant Type

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

278750

Clinical features from OMIM:

278750

Symptoms:

50 (show all 10)
  • telangiectasic erythema/poikiloderma
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • excessive freckling
  • skin hypoplasia/aplasia/atrophy
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • warts/papillomas
  • skin photosensitivity
  • telangiectasiae of the skin
  • dry/squaly skin/exfoliation
  • autosomal recessive inheritance

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Xeroderma Pigmentosum, Variant Type

Drug clinical trials:

Search ClinicalTrials for Xeroderma Pigmentosum, Variant Type

Search NIH Clinical Center for Xeroderma Pigmentosum, Variant Type

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Genetic Tests for Xeroderma Pigmentosum, Variant Type

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23GTR
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Genetic tests related to Xeroderma Pigmentosum, Variant Type:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Variant Type23

Anatomical Context for Xeroderma Pigmentosum, Variant Type

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34MalaCards
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MalaCards organs/tissues related to Xeroderma Pigmentosum, Variant Type:

34
Skin

Animal Models for Xeroderma Pigmentosum, Variant Type or affiliated genes

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Publications for Xeroderma Pigmentosum, Variant Type

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53PubMed
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Articles related to Xeroderma Pigmentosum, Variant Type:

idTitleAuthorsYear
1
Three school-age cases of xeroderma pigmentosum variant type. (23651273)
2013
2
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type. (23630442)
2013
3
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type. (18703314)
2008
4
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. (17344931)
2007

Variations for Xeroderma Pigmentosum, Variant Type

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Variant Type:

65
id Symbol AA change Variation ID SNP ID
1POLHp.Arg111HisVAR_021227
2POLHp.Thr122ProVAR_021228
3POLHp.Gly263ValVAR_021230
4POLHp.Arg361SerVAR_021232
5POLHp.Lys535GluVAR_021234rs56307355
6POLHp.Lys589ThrVAR_021236
7POLHp.Arg93ProVAR_070836
8POLHp.Val266AspVAR_070837
9POLHp.Gly295ArgVAR_070838
10POLHp.Thr692AlaVAR_070839

Clinvar genetic disease variations for Xeroderma Pigmentosum, Variant Type:

1
id Gene Name Type Significance SNP ID Assembly Location
1POLHNM_006502.2(POLH): c.916G> T (p.Glu306Ter)single nucleotide variantPathogenicrs121908562GRCh37Chr 6, 43572383: 43572383
2POLHNM_006502.2(POLH): c.376C> T (p.Gln126Ter)single nucleotide variantPathogenicrs121908563GRCh37Chr 6, 43555112: 43555112
3POLHNM_006502.2(POLH): c.1117C> T (p.Gln373Ter)single nucleotide variantPathogenicrs121908564GRCh37Chr 6, 43578333: 43578333
4POLHNM_006502.2(POLH): c.1603A> G (p.Lys535Glu)single nucleotide variantPathogenicrs56307355GRCh37Chr 6, 43581755: 43581755
5POLHNM_006502.2(POLH): c.1766A> C (p.Lys589Thr)single nucleotide variantPathogenicrs121908565GRCh37Chr 6, 43581918: 43581918

Expression for genes affiliated with Xeroderma Pigmentosum, Variant Type

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Pathways for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Compounds for genes affiliated with Xeroderma Pigmentosum, Variant Type

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GO Terms for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Products for genes affiliated with Xeroderma Pigmentosum, Variant Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Xeroderma Pigmentosum, Variant Type

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet